Multiple epiphyseal dysplasia type 4

Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(32.2%)		 12966518
 Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.
Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-Furga A, Cole WG.
Am J Med Genet A. 2003;122A(3):187-92.
Hip dysplasia Epiphyseal dysplasia
SLC26A2
c|SUB|T|1984|A;RS#:104893924 p|SUB|C|653|S;RS#:104893924 p|SUB|R|279|W;RS#:104893915 rs104893924 rs386833497
Amino Acid Substitution Anion Transport Proteins Carrier Proteins Child Child, Preschool DNA DNA Mutational Analysis Females Genes, Recessive Homo sapiens Homozygote Male Membrane Transport Proteins Mutation Osteochondrodysplasias Patella
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0002656 Epiphyseal dysplasia Very frequent (99-80%)
HP:0002758 Osteoarthritis Very frequent (99-80%)
HP:0000175 Cleft palate Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0002815 Abnormality of the knee Frequent (79-30%)
HP:0002829 Arthralgia Frequent (79-30%)
HP:0003045 Abnormal patella morphology Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0200055 Small hand Frequent (79-30%)
HP:0004322 Short stature Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0031174 Double-layered patella 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SLC26A2 solute carrier family 26 member 2 1836